NM_013382.7(POMT2):c.1262G>A (p.Arg421Gln) AND not specified

Germline classification:: Benign (2 submissions)
Last evaluated:: Mar 12, 2020
Review status:: 2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts

Somatic classification of clinical impact:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Somatic classification of oncogenicity:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Record status:: current
Accession:: RCV000174368.9

Allele description [Variation Report for NM_013382.7(POMT2):c.1262G>A (p.Arg421Gln)]

NM_013382.7(POMT2):c.1262G>A (p.Arg421Gln)

Gene:

POMT2:protein O-mannosyltransferase 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

14q24.3

Genomic location:

Preferred name:

NM_013382.7(POMT2):c.1262G>A (p.Arg421Gln)

HGVS:

NC_000014.9:g.77286814C>T
NG_008897.1:g.39069G>A
NM_013382.7:c.1262G>AMANE SELECT
NP_037514.2:p.Arg421Gln
NP_037514.2:p.Arg421Gln
LRG_844t1:c.1262G>A
LRG_844:g.39069G>A
LRG_844p1:p.Arg421Gln
NC_000014.8:g.77753157C>T
NM_013382.5:c.1262G>A

Protein change:

R421Q

Links:

dbSNP: rs151078549

NCBI 1000 Genomes Browser:

rs151078549

Molecular consequence:

NM_013382.7:c.1262G>A - missense variant - [Sequence Ontology: SO:0001583]

Observations:

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000225656	Eurofins Ntd Llc (ga)	criteria provided, single submitter (EGL Classification Definitions 2015)	Benign (May 23, 2014)	germline	clinical testing	Citation Link,
SCV000614752	Athena Diagnostics	criteria provided, single submitter (Athena Diagnostics Criteria)	Benign (Mar 12, 2020)	unknown	clinical testing	PubMed (2) [See all records that cite these PMIDs] 25267602, 26467025

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000225656

Eurofins Ntd Llc (ga)

criteria provided, single submitter

(EGL Classification Definitions 2015)

Benign
(May 23, 2014)

germline

clinical testing

Citation Link,

SCV000614752

Athena Diagnostics

criteria provided, single submitter

(Athena Diagnostics Criteria)

Benign
(Mar 12, 2020)

unknown

clinical testing

PubMed (2)
[See all records that cite these PMIDs]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	unknown	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing
not provided	germline	unknown	1	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

A glycogene mutation map for discovery of diseases of glycosylation.

Hansen L, Lind-Thomsen A, Joshi HJ, Pedersen NB, Have CT, Kong Y, Wang S, Sparso T, Grarup N, Vester-Christensen MB, Schjoldager K, Freeze HH, Hansen T, Pedersen O, Henrissat B, Mandel U, Clausen H, Wandall HH, Bennett EP.

Glycobiology. 2015 Feb;25(2):211-24. doi: 10.1093/glycob/cwu104. Epub 2014 Sep 28.

PubMed [citation]

PMID:: 25267602
PMCID:: PMC4351397

A Standardized DNA Variant Scoring System for Pathogenicity Assessments in Mendelian Disorders.

Karbassi I, Maston GA, Love A, DiVincenzo C, Braastad CD, Elzinga CD, Bright AR, Previte D, Zhang K, Rowland CM, McCarthy M, Lapierre JL, Dubois F, Medeiros KA, Batish SD, Jones J, Liaquat K, Hoffman CA, Jaremko M, Wang Z, Sun W, Buller-Burckle A, et al.

Hum Mutat. 2016 Jan;37(1):127-34. doi: 10.1002/humu.22918. Epub 2015 Oct 29.

PubMed [citation]

PMID:: 26467025
PMCID:: PMC4737317

Details of each submission

From Eurofins Ntd Llc (ga), SCV000225656.5

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	not provided	not provided	clinical testing	not provided

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		1	not provided	not provided	not provided

From Athena Diagnostics, SCV000614752.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (2)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	unknown	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: May 12, 2024

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